ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser)

dbSNP: rs1555539157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV000664218 SCV000787779 likely pathogenic Developmental and epileptic encephalopathy, 29 2018-04-25 no assertion criteria provided clinical testing

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